A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates (Articolo in rivista) (literal)

Anno

• 2014-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1002/humu.22631 (literal)

Alternative label

• Rossi, Daniela; Vezzani, Bianca; Galli, Lucia; Paolini, Cecilia; Toniolo, Luana; Pierantozzi, Enrico; Spinozzi, Simone; Barone, Virginia; Pegoraro, Elena; Bello, Luca; Cenacchi, Giovanna; Vattemi, Gaetano A.; Tomelleri, Giuliano; Ricci, Giulia; Siciliano, Gabriele; Protasi, Feliciano; Reggiani, C.; Sorrentino, Vincenzo (2014)
  A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates
  in Human mutation
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Rossi, Daniela; Vezzani, Bianca; Galli, Lucia; Paolini, Cecilia; Toniolo, Luana; Pierantozzi, Enrico; Spinozzi, Simone; Barone, Virginia; Pegoraro, Elena; Bello, Luca; Cenacchi, Giovanna; Vattemi, Gaetano A.; Tomelleri, Giuliano; Ricci, Giulia; Siciliano, Gabriele; Protasi, Feliciano; Reggiani, C.; Sorrentino, Vincenzo (literal)

Pagina inizio

• 1163 (literal)

Pagina fine

• 1170 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

• http://www.ncbi.nlm.nih.gov/pubmed/25116801 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 35 (literal)

Rivista

• Human mutation (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

• 8 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 10 (literal)

Note

• ISI Web of Science (WOS) (literal)
• Scopu (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• 1, 8, 18: Molecular Medicine Section, Department of Molecular and Developmental Medicine, University of Siena and Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy / IIM, Interuniversity Institute of Myology; 2, 3, 6, 7: Molecular Medicine Section, Department of Molecular and Developmental Medicine, University of Siena and Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy; 4, 16: IIM, Interuniversity Institute of Myology / Ce.S.I., Center for Research on Ageing & DNICS, Department of Neuroscience, Imaging, and Clinical Sciences, University G. D'Annunzio, Chieti 66013, Italy; 5: Department of Biomedical Sciences, University of Padova, Padova 35131, Italy; 9, 10: Department of Neurosciences, University of Padova, Padova 35131, Italy; 11: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40138, Italy; 12, 13: Department of Neurological and Movement Sciences, University of Verona, Verona 37129, Italy; 14, 15: Department of Clinical and Experimental Medicine, University of Pisa, Pisa 56126, Italy; 17: IIM, Interuniversity Institute of Myology / Department of Biomedical Sciences, University of Padova, Padova 35131, Italy / CNR Institute of Neuroscience, Padova 35131, Italy (literal)

Titolo

• A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates (literal)

Abstract

• A missense mutation in the calsequestrin-1 gene (CASQ1) was found in a group of patients with a myopathy characterized by weakness, fatigue, and the presence of large vacuoles containing characteristic inclusions resulting from the aggregation of sarcoplasmic reticulum (SR) proteins. The mutation affects a conserved aspartic acid in position 244 (p.Asp244Gly) located in one of the high-affinity Ca2+-binding sites of CASQ1 and alters the kinetics of Ca2+ release in muscle fibers. Expression of the mutated CASQ1 protein in COS-7 cells showed a markedly reduced ability in forming elongated polymers, whereas both in cultured myotubes and in in vivo mouse fibers induced the formation of electron-dense SR vacuoles containing aggregates of the mutant CASQ1 protein that resemble those observed in muscle biopsies of patients. Altogether, these results support the view that a single missense mutation in the CASQ1 gene causes the formation of abnormal SR vacuoles containing aggregates of CASQ1, and other SR proteins, results in altered Ca2+ release in skeletal muscle fibers, and, hence, is responsible for the clinical phenotype observed in these patients. (literal)

Prodotto di

• Biologia e Fisiopatologia Neuromuscolare (ME.P01.005.001) (Modulo)
• Istituto di neuroscienze (IN) (Istituto)

Autore CNR

• CARLO REGGIANI (Persona)

Insieme di parole chiave

• Keywords of "A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates" (Insieme di parole chiave)

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Prodotto

• Istituto di neuroscienze (IN) (Istituto)
• Biologia e Fisiopatologia Neuromuscolare (ME.P01.005.001) (Modulo)

Autore CNR di

• CARLO REGGIANI (Persona)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Human mutation (Rivista)

Insieme di parole chiave di

• Keywords of "A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates" (Insieme di parole chiave)